DOCSLIB.ORG

Microcytic Anemia

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Microcytic Anemia The new england journal of medicine review article Edward W. Campion, M.D., Editor Microcytic Anemia Thomas G. DeLoughery, M.D. From the Hematology Section, Knight Can- he microcytic anemias are those characterized by the produc- cer Institute; and the Departments of Med- tion of red cells that are smaller than normal. The small size of these cells is icine, Pathology, and Pediatrics, Oregon Health and Science University, Portland. Tdue to decreased production of hemoglobin, the predominant constituent of Address reprint requests to Dr. DeLough- red cells (Fig. 1). The causes of microcytic anemia are a lack of globin product (thal- ery at the Division of Hematology–Medi- assemia), restricted iron delivery to the heme group of hemoglobin (anemia of in- cal Oncology, Oregon Health and Science University, 3181 S.W. Sam Jackson Park Rd., flammation), a lack of iron delivery to the heme group (iron-deficiency anemia), Portland, OR 97239, or at delought@ and defects in the synthesis of the heme group (sideroblastic anemias). This review ohsu.edu. highlights new aspects of the most common microcytic anemias: thalassemia, N Engl J Med 2014;371:1324-31. anemia of inflammation, and iron-deficiency anemia. DOI: 10.1056/NEJMra1215361 Copyright © 2014 Massachusetts Medical Society. Thalassemia Thalassemias are diseases of hemoglobin synthesis, with subtypes named after the hemoglobin chain involved (Table 1). Given that each chromosome 16 carries two copies of the gene encoding the α chain, there are four types of α-thalassemia: trait 1, trait 2, hemoglobin H disease, and hemoglobin Bart’s. Patients with the trait thalassemias present with no or very mild anemia and variable microcytosis — both more pronounced in patients with the trait-2 form. Deletion of or mutations in three α-chain genes lead to hemoglobin H disease, which is marked by more prominent anemia, often with a hemolytic component. Hemoglobin Bart’s is char- acterized by a lack of α-chain production, resulting in hydrops fetalis due to the lack of fetal and adult hemoglobin production. The main geographic locations where α-thalassemia is found are Africa, the Mediterranean area, and Southeast Asia, but the more severe forms — hemoglobin H disease and hemoglobin Bart’s — are seen only in the Mediterranean area and Southeast Asia.1 The reason for this geographic association with severity concerns the two molecular forms of α-thalassemia trait 2 — one in which one copy of the gene is mutated on each chromosome (trans) and the other in which one chromo- some has both genes mutated (cis). The predominant genotype of thalassemia trait in Africa is trans, but the cis form is found in other areas, which can lead to he- moglobin H disease and hemoglobin Bart’s. β-Thalassemia is common in the Mediterranean area and Southeast Asia. Be- cause there is one copy of the hemoglobin β chain on chromosome 11, patients can be either heterozygous (thalassemia minor) or homozygous (thalassemia major) for the defective hemoglobin chain. Some patients are homozygous for β-chain mutations but still have residual β-chain synthesis, resulting in an intermediate phenotype (thalassemia intermedia). Patients with thalassemia minor present with mild microcytic anemia. Thalassemia major is manifested soon after birth as se- vere transfusion-dependent anemia. As the name implies, thalassemia intermedia can range in presentation from transfusion-dependent anemia to anemia that is slightly more severe than that in patients with thalassemia minor. Also common in Southeast Asia is hemoglobin E disease, in which lysine is substituted for glutamine at position 26 of the β chain. This mutation also activates 1324 n engl j med 371;14 nejm.org october 2, 2014 The New England Journal of Medicine Downloaded from nejm.org on October 2, 2014. For personal use only. No other uses without permission. Copyright © 2014 Massachusetts Medical Society. All rights reserved. Microcytic Anemia Iron deficiency Anemia of inflammation Iron Heme Hemoglobin Protoporphyrin Globin Sideroblastic anemia Thalassemia Figure 1. Disorders Characterized by Microcytosis. Red cells become microcytic because of a lack of hemoglobin. This can result from a lack of iron (deficiency or in- flammation), defects in heme synthesis (sideroblastic anemias), or defects in the production of hemoglobinCOLOR FIGURE protein (thalassemia). Draft 1 8/5/14 Author DeLoughery Fig # 1 Title Microcytic Anemia ME an alternative messenger RNA (mRNA) splice site, Iron DeficiencyDE Campion leading to a marked reduction in protein synthesis. Artist N Koscal AUTHOR PLEASE NOTE: People who are heterozygous for hemoglobin E The most common anemiaFigure is hasiron-deficiency been redrawn and type has been ane- reset Please check carefully have microcytosis with target cells, and those who mia. Besides playing a crucialIssue date role10/2/2014 as an oxygen are homozygous have only mild anemia. However, carrier in the heme group of hemoglobin, iron is children with one copy each of the β-thalassemia found in many key proteins in the cells, such as gene and the hemoglobin E gene will have a se- cytochromes and myoglobin, so it is not unexpect- vere phenotype, resulting in a transfusion-depen- ed that a lack of iron has effects other than ane- dent anemia. mia. Three studies have focused on nonanemic iron deficiency leading to fatigue. Two studies Anemia of Inflammation showed that oral iron supplementation reduces fatigue, with no significant change in hemoglobin Inflammatory states are often accompanied by levels, in women with a ferritin level of less than microcytic anemia. The cause of this anemia is 50 ng per milliliter,4,5 and a third study showed a twofold.2 First, renal production of erythropoietin lessening of fatigue with parenteral iron admin- is suppressed by inflammatory cytokines, resulting istration in women with a ferritin level of 15 ng in decreased red-cell production. Second, lack of per milliliter or less or an iron saturation of 20% iron availability for developing red cells can lead or less.6 to microcytosis. The lack of iron is largely due to Owing to obligate iron loss through menses, the protein hepcidin,3 an acute-phase reactant that women are at greater risk for iron deficiency than leads to both reduced iron absorption and re- men. Iron loss in all women averages 1 to 3 mg duced release of iron from body stores. The pro- per day, and dietary intake is often inadequate to tein ferroportin mediates cellular efflux of iron. maintain a positive iron balance.7,8 A 1967 study Hepcidin binds to and down-regulates ferropor- showed that 25% of healthy, college-age women tin, thereby blocking iron absorbed by enterocytes had no bone marrow iron stores and that another from entering the circulation and also preventing 33% had low stores.9 Pregnancy adds to demands the release of iron from its body stores to develop- for iron, with requirements increasing to 6 mg per ing red cells (Fig. 2). day by the end of pregnancy.10 n engl j med 371;14 nejm.org october 2, 2014 1325 The New England Journal of Medicine Downloaded from nejm.org on October 2, 2014. For personal use only. No other uses without permission. Copyright © 2014 Massachusetts Medical Society. All rights reserved. The new england journal of medicine Table 1. Features of the Thalassemias.* Mean Corpuscular Findings on Type Volume Hemoglobin Electrophoresis Other Features fl g/dl β-Thalassemia Major 50–75 <7 Increased hemoglobin A2 Severe anemia Intermedia 50–75 <9 Increased hemoglobin A2 Target cells on smear Minor 65–75 9–10 Increased hemoglobin A2 Target cells on smear α-Thalassemia Trait 1 (α α/α−) 80–85 12–14 Normal Trait 2 (α−/α−) or (α α/−) 65–75 12–13 Normal Hemoglobin H disease (α−/−) 60–69 9–8 Hemoglobin H Hemolysis, splenomegaly Hemoglobin Bart’s (− −/−) Hemoglobin H, hemoglobin Hydrops fetalis Bart’s Hemoglobin E disease Heterozygous 80–85 12 Hemoglobin E present Rare target cells on smear Homozygous 70–79 11–12 Hemoglobin E predominant Target cells on smear * The normal range for mean corpuscular volume is 80 to 100 fl. The normal range for hemoglobin level is 13.5 to 17.5 g per deciliter in men and 12 to 16 g per deciliter in women. Athletes are another group at risk for iron defi- reduced can be a clue to etiologic factors, because ciency.11 Gastrointestinal tract blood is the a value of less than 70 fl is rare in patients with source of iron loss, and exercise-induced hemoly- anemia of inflammation. There have been a vari- sis leads to urinary iron losses.12 Decreased ab- ety of proposed prediction rules with the use of sorption of iron has also been implicated as a blood indexes to differentiate between thalassemia cause of iron deficiency, because levels of hepci- and iron deficiency, but these have limited pre- din are often elevated in athletes owing to dictive power; therefore, specific testing is required. training-induced inflammation.11 Although it is On the blood smear, microcytic cells can be clear that frank anemia can affect exercise per- recognized because they are smaller than a lym- formance, evidence is increasing that nonanemic phocyte nucleus. Hypochromia — an increase in iron deficiency may also be detrimental.13 the size of the central pallor of red cells — can An interactive Obesity and its surgical treatment are also risk also be observed. In iron-deficiency anemia and graphic showing blood smears factors for iron deficiency. Obese patients are of- anemia of inflammation, microcytic cells pre- is available ten iron-deficient, with increased hepcidin levels dominate, but in β-thalassemia and hemoglobin at NEJM.org being implicated in decreased absorption.14 After bariatric surgery, the incidence of iron deficiency can be as high as 50%.15 Because the main site Figure 2 (facing page).
Load more

Recommended publications
  • Non-Commercial Use Only
    only use Non-commercial 14th International Conference on Thalassaemia and Other Haemoglobinopathies 16th TIF Conference for Patients and Parents 17-19 November 2017 • Grand Hotel Palace, Thessaloniki, Greece only use For thalassemia patients with chronic transfusional iron overload... Make a lasting impression with EXJADENon-commercial film-coated tablets The efficacy of deferasirox in a convenient once-daily film-coated tablet Please see your local Novartis representative for Full Product Information Reference: EXJADE® film-coated tablets [EU Summary of Product Characteristics]. Novartis; August 2017. Important note: Before prescribing, consult full prescribing information. iron after having achieved a satisfactory body iron level and therefore retreatment cannot be recommended. ♦ Maximum daily dose is 14 mg/kg body weight. ♦ In pediatric patients the Presentation: Dispersible tablets containing 125 mg, 250 mg or 500 mg of deferasirox. dosing should not exceed 7 mg/kg; closer monitoring of LIC and serum ferritin is essential Film-coated tablets containing 90 mg, 180 mg or 360 mg of deferasirox. to avoid overchelation; in addition to monthly serum ferritin assessments, LIC should be Indications: For the treatment of chronic iron overload due to frequent blood transfusions monitored every 3 months when serum ferritin is ≤800 micrograms/l. (≥7 ml/kg/month of packed red blood cells) in patients with beta-thalassemia major aged Dosage: Special population ♦ In moderate hepatic impairment (Child-Pugh B) dose should 6 years and older. ♦ Also indicated for the treatment of chronic iron overload due to blood not exceed 50% of the normal dose. Should not be used in severe hepatic impairment transfusions when deferoxamine therapy is contraindicated or inadequate in the following (Child-Pugh C).
    [Show full text]
  • Clinical Pathology Interpretation Barbara Horney
    CLINICAL PATHOLOGY PATHOLOGIE CLINIQUE Clinical pathology interpretation Barbara Horney History, physical examination, and Table 1. Hematologic findings from a lethargic, laboratory findings 4-year-old schipperke 4-year-old, spayed female, schipperke was pre- Blood cell count Reference range A sented because of mild lethargy. Pale mucous mem- White blood cells branes were observed on physical examination. Table 1 (WBC) gives the results of the hematological examination of Total 6.0 X 109/L 6.0-17.1 X 109/L blood at Differential samples taken this time. No significant abnor- segmented 65% 3.85 X 109/L 3.6-11.5 X 109/L malities were identified on the serum biochemical neutrophils profile. eosinophils 2% 0.12 X 109/L 0.01-1.25 X 109/L lymphocytes 27% 1.59 X 109/L 1.0-4.8 X 109/L Interpretation and discussion monocytes 6% 0.35 X 109/L 0.15-1.35 X 109/L Red blood cells The hematology results can be summarized as severe, Total 1.2 X 1012/L 5.5-8.5 X 109/L microcytic, normochromic, nonregenerative anemia nucleated 1/100 WBC <1-2 per 100 WBC associated with marked spherocytosis. spherocytes 4+ microcytosis 2+ The presence of spherocytes is often associated with immune-mediated hemolytic disease [1,2], although Platelets estimated normal hereditary membrane defects [3] and zinc toxicosis [4] in number can also result in spherocyte formation. A direct antibody Reticulocytes 0 X 109/L up to 120 X 109/L test (Coomb's test) was weakly positive. This finding can Hemoglobin 22 g/L 120-180 g/L support the tentative diagnosis of anemia of immune- Hematocrit 0.068 L/L 0.37-0.55 L/L mediated etiology, although this test is subject to both Mean corpuscular false positive and false negative results [2,5].
    [Show full text]
  • Newborn Screening Result for Bart's Hemoglobin
    NEWBORN SCREENING RESULT FOR BART’S HEMOGLOBIN Physician’s information sheet developed by the Nebraska Newborn Screening Program with review by James Harper, MD, Pediatric Hematologist with UNMC Follow-up program, and member of the Nebraska Newborn Screening Advisory Committee. BACKGROUND The alpha thalassemias result from the loss of alpha globin genes. There are normally four genes for alpha globin production so that the loss of one to four genes is possible. The lack of one gene causes alpha thalassemia 2 (silent carrier) with no clinically detectable problems but may cause small amounts of hemoglobin Barts to be present in newborn blood samples. Alpha thalassemia trait (Alpha thalassemia 1) results from loss of two genes and causes a mild microcytic anemia which may resemble iron deficiency anemia. The loss of three genes causes hemoglobin H diseases which is a moderately severe form of thalassemia. The lack of all four genes causes hydrops fetalis and is usually fatal in utero. In general, only the loss of one or two genes is seen in African Americans. Individuals from Southeast Asia and the Mediterranean may have all four types of alpha thalassemia. The percentage of hemoglobin Barts in the blood sample may indicate the number of alpha genes that have been lost. However, the percentage of hemoglobin Barts is not directly measurable with the current methodology used by the newborn screening laboratory. Only the presence of Barts hemoglobin in relation to fetal and adult hemoglobin, and variants S, C, D and E can be detected. RECOMMENDED WORK UP In addition to the standard newborn hemoglobinopathy confirmation (hemoglobin electrophoresis), to separate those patients with alpha thalassemia silent carrier from the patients with alpha thalassemia trait, we recommend that these babies have the following labs drawn at their 6 month well baby check: CBC with retic count, ferritin, and a hemoglobin electropheresis.
    [Show full text]
  • SEED Haematology Sysmex Educational Enhancement and Development October 2012
    SEED Haematology Sysmex Educational Enhancement and Development October 2012 The red blood cell indices The full blood count has been used in conjunction with the traditional red The complete blood count (CBC) is central to clinical deci- cell indices in order to narrow down the possible causes sion making. This makes it one of the commonest laboratory of anaemia in an individual patient. investigations performed worldwide. Whilst the definition of what constitutes an CBC is influenced by the number Impedance technology and type of parameters measured by different haematology The RBC, HCT and MCV are all closely interrelated as they analysers, the traditional red cell indices that are widely are derived from information obtained from the passage used to classify anaemias are common to all. of cells through the aperture of the impedance channel of an automated haematology analyser. The impedance The laboratory approach to anaemia technology is based on the principle that an electrical field, Anaemia is an extremely common global healthcare prob- created between two electrodes of opposite charge, can lem. However, anaemia is merely a symptom which can be used to count and determine the size of cells. Blood result from a multitude of causes. Effective treatment is cells are poor conductors of electricity. The diluent in which only possible if the underlying cause is correctly identified. they are suspended as they pass through the aperture To this end, several classification systems have been devis- during counting is an isotonic solution which is a good ed. The most useful and widely used classification system conductor of electricity.
    [Show full text]
  • Acoi Board Review 2019 Text
    CHERYL KOVALSKI, DO FACOI NO DISCLOSURES ACOI BOARD REVIEW 2019 TEXT ANEMIA ‣ Hemoglobin <13 grams or ‣ Hematocrit<39% TEXT ANEMIA MCV RETICULOCYTE COUNT Corrected retic ct = hematocrit/45 x retic % (45 considered normal hematocrit) >2%: blood loss or hemolysis <2%: hypoproliferative process TEXT ANEMIA ‣ MICROCYTIC ‣ Obtain and interpret iron studies ‣ Serum iron ‣ Total iron binding capacity (TIBC) ‣ Transferrin saturation ‣ Ferritin-correlates with total iron stores ‣ can be normal or increased if co-existent inflammation TEXT IRON DEFICIENCY ‣ Most common nutritional problem in the world ‣ Absorbed in small bowel, enhanced by gastric acid ‣ Absorption inhibited by inflammation, phytates (bran) & tannins (tea) TEXT CAUSES OF IRON DEFICIENCY ‣ Blood loss – most common etiology ‣ Decreased intake ‣ Increased utilization-EPO therapy, chronic hemolysis ‣ Malabsorption – gastrectomy, sprue ‣ ‣ ‣ TEXT CLINICAL MANIFESTATIONS OF IRON DEFICIENCY ‣ Impaired psychomotor development ‣ Fatigue, Irritability ‣ PICA ‣ Koilonychiae, Glossitis, Angular stomatitis ‣ Dysphagia TEXT IRON DEFICIENCY LAB FINDINGS ‣ Low serum iron, increased TIBC ‣ % sat <20 TEXT MANAGEMENT OF IRON DEFICIENCY ‣ MUST LOOK FOR SOURCE OF BLEED: ie: GI, GU, Regular blood donor ‣ Replacement: 1. Oral: Ferrous sulfate 325 mg TID until serum iron, % sat, and ferritin mid-range normal, 6-12 months 2. IV TEXT SIDEROBLASTIC ANEMIAS Diverse group of disorders of RBC production characterized by: 1. Defect involving incorporation of iron into heme molecule 2. Ringed sideroblasts in
    [Show full text]
  • Approach to Anemia
    APPROACH TO ANEMIA Mahsa Mohebtash, MD Medstar Union Memorial Hospital Definition of Anemia • Reduced red blood mass • RBC measurements: RBC mass, Hgb, Hct or RBC count • Hgb, Hct and RBC count typically decrease in parallel except in severe microcytosis (like thalassemia) Normal Range of Hgb/Hct • NL range: many different values: • 2 SD below mean: < Hgb13.5 or Hct 41 in men and Hgb 12 or Hct of 36 in women • WHO: Hgb: <13 in men, <12 in women • Revised WHO/NCI: Hgb <14 in men, <12 in women • Scrpps-Kaiser based on race and age: based on 5th percentiles of the population in question • African-Americans: Hgb 0.5-1 lower than Caucasians Approach to Anemia • Setting: • Acute vs chronic • Isolated vs combined with leukopenia/thrombocytopenia • Pathophysiologic approach • Morphologic approach Reticulocytes • Reticulocytes life span: 3 days in bone marrow and 1 day in peripheral blood • Mature RBC life span: 110-120 days • 1% of RBCs are removed from circulation each day • Reticulocyte production index (RPI): Reticulocytes (percent) x (HCT ÷ 45) x (1 ÷ RMT): • <2 low Pathophysiologic approach • Decreased RBC production • Reduced effective production of red cells: low retic production index • Destruction of red cell precursors in marrow (ineffective erythropoiesis) • Increased RBC destruction • Blood loss Reduced RBC precursors • Low retic production index • Lack of nutrients (B12, Fe) • Bone marrow disorder => reduced RBC precursors (aplastic anemia, pure RBC aplasia, marrow infiltration) • Bone marrow suppression (drugs, chemotherapy, radiation)
    [Show full text]
  • The Red Cell Histogram and the Dimorphic Red Cell Population
    CE Update Submitted 4.30.10 | Revision Received 9.27.10 | Accepted 9.27.10 The Red Cell Histogram and The Dimorphic Red Cell Population Benie T. Constantino, SH, I; ART, MLT(CSMLS) (CML Healthcare Inc., Mississauga, Ontario, Canada) DOI: 10.1309/LMF1UY85HEKBMIWO Abstract conditions and may provide major clues in some morphological features of dimorphism The RBC histogram is an integral part of the diagnosis and management of significant and the ensuing characteristic changes in their automated hematology analysis and is now red cell disorders. In addition, it is frequently RBC histograms. routinely available on all automated cell used, along with the peripheral blood film, as counters. This histogram and other associated an aid in monitoring and interpreting abnormal Keywords: histogram, dimorphic red cells, red complete blood count (CBC) parameters have morphological changes, particularly dimorphic blood cell distribution width been found abnormal in various hematological red cell populations. This article discusses After reading this article, readers should be able to correlate a RBC Hematology exam 51102 questions and corresponding answer form histogram and red blood cell distribution width with microscopical are located after this CE Update on page 309. findings. Table 1_Conditions Associated With Dimorphic To paraphrase an adage, 1 histogram graph is worth 5-12 1000 numbers. A large collection of data, displayed as a visual Red Cells image, can convey information with far more impact than the numbers alone. In hematology, these data take on several Early iron developing microcytic population forms, 1 of which is the RBC histogram. Visual scanning Folate/vitamin B12 developing macrocytic population Post-iron treatment of iron deficiency anemia of the histogram gives a good initial sense of the range, size, Post-iron treatment of iron deficiency with megaloblastic anemia shape, and other salient features of the red cell morphology.
    [Show full text]
  • Clinical Evaluation of Different Types of Anemia 1Richa Saxena, 2Sudha Chamoli, 3Monisha Batra
    WJOA Richa Saxena et al 10.5005/jp-journals-10065-0024 REVIEW ARTICLE Clinical Evaluation of Different Types of Anemia 1Richa Saxena, 2Sudha Chamoli, 3Monisha Batra World Health Organization criteria for anemia ABSTRACT Table 1: Venous blood (gm/dL) MCHC Anemia, defined as a hemoglobin level two standard devia- Adult males 13 34 tions below the mean for age, is prevalent among infants and children as well as adults worldwide. The evaluation Adult females, nonpregnant 12 34 of an individual with anemia should begin with a thorough Adult females, pregnant 11 34 history and risk assessment. Characterizing the anemia as Children (6 months–6 years) 11 34 microcytic, normocytic, or macrocytic based on the mean Children (6–14 years) 12 34 corpuscular volume (MCV) will aid in the work-up and man- agement. Microcytic anemia due to iron deficiency is the most common type of anemia in children. Iron deficiency CLASSIFICATION OF ANEMIA anemia, which can be associated with cognitive issues, is prevented and treated with iron supplements or increased The classification of anemia based on two factors (Table 2): intake of dietary iron. This review article discusses the clinical 1. Red cell morphology evaluation of different types of anemias based on the find- 2. Etiology of anemia ings of clinical examination (i.e., pallor, pedal edema, nail changes, and epithelial changes) as well as the results of Anemia Classification Based on Morphology various investigations such as routine blood investigations (hemoglobin, mean cell hemoglobin concentration [MCHC], Anemia can be classified based on morphology as: packed cell volume, etc.), peripheral smear examination, • Normocytic normochromic (MCV 76–96 fL, MCHC bone marrow examination, etc.
    [Show full text]
  • Complete Blood Count in Primary Care
    Complete Blood Count in Primary Care bpac nz better medicine Editorial Team bpacnz Tony Fraser 10 George Street Professor Murray Tilyard PO Box 6032, Dunedin Clinical Advisory Group phone 03 477 5418 Dr Dave Colquhoun Michele Cray free fax 0800 bpac nz Dr Rosemary Ikram www.bpac.org.nz Dr Peter Jensen Dr Cam Kyle Dr Chris Leathart Dr Lynn McBain Associate Professor Jim Reid Dr David Reith Professor Murray Tilyard Programme Development Team Noni Allison Rachael Clarke Rebecca Didham Terry Ehau Peter Ellison Dr Malcolm Kendall-Smith Dr Anne Marie Tangney Dr Trevor Walker Dr Sharyn Willis Dave Woods Report Development Team Justine Broadley Todd Gillies Lana Johnson Web Gordon Smith Design Michael Crawford Management and Administration Kaye Baldwin Tony Fraser Kyla Letman Professor Murray Tilyard Distribution Zane Lindon Lyn Thomlinson Colleen Witchall All information is intended for use by competent health care professionals and should be utilised in conjunction with © May 2008 pertinent clinical data. Contents Key points/purpose 2 Introduction 2 Background ▪ Haematopoiesis - Cell development 3 ▪ Limitations of reference ranges for the CBC 4 ▪ Borderline abnormal results must be interpreted in clinical context 4 ▪ History and clinical examination 4 White Cells ▪ Neutrophils 5 ▪ Lymphocytes 9 ▪ Monocytes 11 ▪ Basophils 12 ▪ Eosinophils 12 ▪ Platelets 13 Haemoglobin and red cell indices ▪ Low haemoglobin 15 ▪ Microcytic anaemia 15 ▪ Normocytic anaemia 16 ▪ Macrocytic anaemia 17 ▪ High haemoglobin 17 ▪ Other red cell indices 18 Summary Table 19 Glossary 20 This resource is a consensus document, developed with haematology and general practice input. We would like to thank: Dr Liam Fernyhough, Haematologist, Canterbury Health Laboratories Dr Chris Leathart, GP, Christchurch Dr Edward Theakston, Haematologist, Diagnostic Medlab Ltd We would like to acknowledge their advice, expertise and valuable feedback on this document.
    [Show full text]
  • Red Blood Cell Morphology in Patients with Β-Thalassemia Minor
    J Lab Med 2017; 41(1): 49–52 Short Communication Carolin Körber, Albert Wölfler, Manfred Neubauer and Christoph Robier* Red blood cell morphology in patients with β-thalassemia minor DOI 10.1515/labmed-2016-0052 Keywords: β-thalassemia minor; erythrocytes; red blood Received July 11, 2016; accepted October 20, 2016; previously published cells; red blood cell morphology. online December 10, 2016 Abstract In β-thalassemias, the examination of a peripheral blood (PB) smear may provide relevant clues to initial diagnosis. Background: A systematic analysis of the occurrence of Complete laboratory investigation consists of the determina- red blood cell (RBC) abnormalities in β-thalassemia minor tion of the complete blood count, assessment of red blood has not been performed to date. This study aimed to iden- cell (RBC) morphology, high performance liquid chroma- tify and quantify the frequency of RBC abnormalities in tography (HPLC), hemoglobin electrophoresis and, where patients with β-thalassemia minor. necessary, DNA analysis [1]. Especially in the clinically Methods: We examined blood smears of 33 patients with severe forms referred to as β-thalassemia major and interme- β-thalassemia minor by light microscopy for the occur- dia, RBC abnormalities are often markedly apparent [2]. In rence of 15 defined RBC abnormalities. In the case of posi- β-thalassemia minor, also called β-thalassemia trait, the car- tivity, the abnormal cells/20 high power fields (HPF) at riers are usually clinically asymptomatic, showing persistent 1000-fold magnification were counted. microcytosis and hypochromia or mild microcytic anemia [1, Results: Anisocytosis, poikilocytosis and target cells 3]. The PB smear may show microcytosis, hypochromia and, (median 42/20 HPF) were observed in all, and ovalocytes infrequently, poikilocytosis [2].
    [Show full text]
  • Iron Deficiency and the Anemia of Chronic Disease
    Thomas G. DeLoughery, MD MACP FAWM Professor of Medicine, Pathology, and Pediatrics Oregon Health Sciences University Portland, Oregon [email protected] IRON DEFICIENCY AND THE ANEMIA OF CHRONIC DISEASE SIGNIFICANCE Lack of iron and the anemia of chronic disease are the most common causes of anemia in the world. The majority of pre-menopausal women will have some element of iron deficiency. The first clue to many GI cancers and other diseases is iron loss. Finally, iron deficiency is one of the most treatable medical disorders of the elderly. IRON METABOLISM It is crucial to understand normal iron metabolism to understand iron deficiency and the anemia of chronic disease. Iron in food is largely in ferric form (Fe+++ ) which is reduced by stomach acid to the ferrous form (Fe++). In the jejunum two receptors on the mucosal cells absorb iron. The one for heme-iron (heme iron receptor) is very avid for heme-bound iron (absorbs 30-40%). The other receptor - divalent metal transporter (DMT1) - takes up inorganic iron but is less efficient (1-10%). Iron is exported from the enterocyte via ferroportin and is then delivered to the transferrin receptor (TfR) and then to plasma transferrin. Transferrin is the main transport molecule for iron. Transferrin can deliver iron to the marrow for the use in RBC production or to the liver for storage in ferritin. Transferrin binds to the TfR on the cell and iron is delivered either for use in hemoglobin synthesis or storage. Iron that is contained in hemoglobin in senescent red cells is recycled by binding to ferritin in the macrophage and is transferred to transferrin for recycling.
    [Show full text]
  • Microcytic Hypochromic Anemia Patients with Thalassemia: Genotyping Approach
    101 MICROCYTIC HYPOCHROMIC ANEMIA PATIENTS WITH THALASSEMIA: GENOTYPING APPROACH FAKHER RAHIM ABSTRACT BACKGROUND: Microcytic hypochromic anemia is a common condition in clinical practice, and alpha-thalassemia has to be considered as a differential diagnosis. AIMS: This study was conducted to evaluate the frequency of α-gene, β-gene and hemoglobin variant numbers in subjects with microcytic hypochromic anemia. SETTING AND DESIGNS: Population-based case-control study in the Iranian population. MATERIALS AND METHODS: A total of 340 subjects from southwest part of Iran were studied in the Research Center of Thalassemia and Hemoglobinopathies (RCTH), Iran. Genotyping for known α- and β-gene mutations was done with gap-PCR and ARMS. In cases of some rare mutations, the genotyping was done with the help of other techniques such as RFLP and ARMS-PCR. STATISTICAL ANALYSIS: Statistical analysis was carried out by SPSS 11.5 and an independent-sample t test. RESULTS: Out of the total 340 individuals, 325 individuals were evaluated to have microcytic hypochromic anemia based on initial hematological parameters such as MCV<80 fl; MCH <27 pg; the remaining 15 patients were diagnosed with no definite etiology. The overall frequency of -α3.7 deletion in 325 individuals was 20.3%. The most frequent mutations were IVS II-I, CD 36/37 and IVS I-110 with frequencies of 6.31%, 5.27% and 1.64%, respectively. Only, there was a significant difference between beta-thalassemia trait and beta-thalassemia major with regard to MCV (P < 0.05) and MCH (P < 0.05) indices, and also MCH index between beta-thalassemia trait and Hb variants (P < 0.05).
    [Show full text]